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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FGFR1

Variant:p.N659_G660Splc

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FGFR1

NM_023110.3:p.N659_G660Splc

hg38:chr8:38414778 C>A

Associated Papers

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.

An J et al.

American Journal of Medical Genetics. Part A, 2026

40801429 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."